Open AccessGenetic variation in phenylketonuria: analysis of the PAHvdb database
Author(s) -
Alin Remus Iuhas,
Claudia Jurcă,
Marius Bembea
Publication year - 2022
Publication title -
romanian journal of pediatrics
Language(s) - English
Resource type - Journals
eISSN - 2069-6175
pISSN - 1454-0398
DOI - 10.37897/rjp.2022.1.6
Subject(s) - frameshift mutation , missense mutation , exon , phenylalanine hydroxylase , genetics , gene , genotype , allele , phenotype , allelic heterogeneity , biology , allele frequency , rna splicing , database , phenylalanine , amino acid , rna , computer science